Congenital Generalized Lipodystrophy Type 1
Disease ID: disease_node_20152
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| Dbxref | GARD:84, ICD10CM:E88.1, MIM:608594 |
|---|---|
| Subclassof | DOID_0050585 |
| Data Source | DOID |
| Synonyms | Berardinelli-Seip Congenital Lipodystrophy, Type 1, Brunzell syndrome AGPAT2-related |
| Doid Label | congenital generalized lipodystrophy type 1 |
| Doid Description | A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. |
| Disease Node Id | disease_node_20152 |
| Doid Id | DOID_0111135 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Generalized Lipodystrophy Type 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Generalized Lipodystrophy(ID:disease_node_20148) (Disease)